ECHS1

OMIMHGNC

Synonym(s): SCEH

Locus: 10q26.3

Protein: Enoyl-CoA hydratase, mitochondrial

 

Disorders

Tests

Test Type
Molecular (9)
Multi-Gene Panel (6)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (5)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (7)
Prenatal/Carrier
Prenatal (2)
Carrier (4)
Lab Location
Germany(2)
USA(5)
Finland(2)
 
TAT: 3-5 weeks
price: contact lab
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-6 weeks
price: contact lab
nucSEEK Focus
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 2-4 weeks
price: contact lab
Single gene testing ECHS1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - T├╝bingen, Germany
TAT: 2-4 weeks
price: contact lab
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 431 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Lipid Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 71 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
ECHS1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Metabolism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Fatty Acid Oxidation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: ~2 weeks
price: contact lab
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany